Results 81 to 90 of about 48,474 (154)

Treatment of corneal cystine crystal accumulation in patients with cystinosis

Clinical Ophthalmology, 2014
Fatemeh Shams, Iain Livingstone, Dilys Oladiwura, Kanna Ramaesh Department of Ophthalmology, Gartnavel General Hospital, Glasgow, Scotland Abstract: Cystinosis is a rare autosomal recessive disorder characterized by the accumulation of cystine within ...
Shams F, Livingstone I, Oladiwura D, Ramaesh K   +3 more
doaj  

Intermediate type cystinosis with a novel CTNS variant in a child: a case report

Journal of Rare Diseases
Cystinosis is a rare lysosomal storage disorder caused by a variant in the CTNS gene that leads to the accumulation of cystine in the body’s tissues.
Mugahid Elamin, Ghada Alzhrany, Reem Mohamed, Wafa Daw, Bashiar Alabbasi, Muawia Ahmed, Yassir Bakhiet, Yomna Aloufi, Majed Aloufi   +8 more
doaj   +1 more source

Corrigendum

, 2019
Clinical Case Reports, Volume 7, Issue 9, Page 1833-1833, September 2019.
wiley   +1 more source

CTNS mutations in patients with cystinosis

, 1999
Cystinosis is an autosomal recessive lysosomal storage disease caused by mutations in the gene CTNS. The CTNS gene product, cystinosin, has 367 amino acids and seven transmembrane domains and is thought to transport cystine out of lysosomes.
Shotelersuk, Vorasuk, Anikster, Yair, Gahl, William A.   +2 more
core   +1 more source

Skeletal Consequences of Nephropathic Cystinosis

, 2018
© 2018 This article is a U.S. Government work and is in the public domain in the USA. Nephropathic cystinosis is a rare lysosomal storage disorder. Patients present in the first year of life with renal Fanconi syndrome that evolves to progressive chronic
Luis Fernandez de Castro, Pablo Florenzano, Tella, Sri Harsha, Sydney M Brown, Dorothy Bulas, Isidro B Salusky, Roberts, Mary Scott, Whitaker, Adom, Michael T Collins, William A Gahl, Pereira, Renata C., Florenzano, Pablo, Bulas, Dorothy, Adom Whitaker, Fernández de Castro, Luis, Salusky, Isidro B., Renata C Pereira, Carlos Ferreira, Rachel I Gafni, Brown, Sydney M., Florenzano Valdés, Pablo Felipe, Mary Scott Roberts, Harsha Tella, Sri, de Castro, Luis Fernandez, Gahl, William A., Ferreira, Carlos, Sri Harsha Tella, Gafni, Rachel I., Collins, Michael T., Nesterova, Galina, Galina Nesterova   +30 more
core   +1 more source

Population pharmacokinetics and pharmacodynamics of cysteamine in nephropathic cystinosis patients [PDF]

, 2011
Background Nephropathic cystinosis is an autosomal recessive disorder resulting in an impaired transport of cystine trough the lysosomal membrane causing an accumulation of free cystine in lysosomes.
Bouazza, Naïm, Urien, Saik, Jean-Marc Tréluyer, Ricquier Daniel, Bouazza Naïm, Chadefaux-Vekemans, Bernadette, Bernadette Chadefaux-Vekemans, Ricquier, Daniel, Daniel Ricquier, Chadefaux-Vekemans Bernadette, Ottolenghi Chris, Ottolenghi, Chris, Patrick Niaudet, Tréluyer Jean-Marc, Urien Saik, Niaudet, Patrick, Georges Deschenes, Niaudet Patrick, Chris Ottolenghi, Saik Urien, Deschenes Georges, Tréluyer, Jean-Marc, Naïm Bouazza, Deschenes, Georges   +23 more
core   +1 more source

Beneficial effects of starting oral cysteamine treatment in the first 2 months of life on glomerular and tubular kidney function in infantile nephropathic cystinosis. [PDF]

Mol Genet Metab, 2022
Hohenfellner K, Nießl C, Haffner D, Oh J, Okorn C, Palm K, Schlingmann KP, Wygoda S, Gahl WA.   +8 more
europepmc   +1 more source

Quality of life and mental health status in caregivers of pediatric patients with nephropathic cystinosis [PDF]

There are few studies assessing psychological burden and quality of life (QoL) in caregivers of pediatric patients with nephropathic cystinosis, a severe chronic disease.
Gema Ariceta, Nuñez Rodrigo, Laura, González, Karina, Eixarch, Teresa, Karina González, Ariceta Iraola, Gema, Nuñez, Laura, Teresa Eixarch, Laura Nuñez   +8 more
core   +1 more source

Mutational Spectrum of the CTNS Gene in Egyptian Patients with Nephropathic Cystinosis

, 2014
Nephropathic cystinosis is a rare autosomal recessive disorder caused by mutations in the CTNS gene, encoding for cystinosin, a carrier protein transporting cystine out of lysosomes.
Levtchenko, Elena, Soliman, Neveen A., van den Heuvel, Bert, Gamal, Mohamed, Bongaers, Inge, Abdel Hamid, Rehab H., Ibrahim, Mohamed, Marie, Sandrine   +7 more
core   +1 more source

Altered mTOR signalling in nephropathic cystinosis

, 2016
Lysosomes play a central role in regulating autophagy via activation of mammalian target of rapamycin complex 1 (mTORC1). We examined mTORC1 signalling in the lysosomal storage disease nephropathic cystinosis (MIM 219800), in which accumulation of ...
Pastore, Anna, Levtchenko, Elena, Ivanova, Ekaterina, van den Heuvel, Bert, Missiaen, Ludwig, Bultynck, Geert, De Smedt, Humbert, Mekahli, Djalila, Ibrahim, Mohamed   +8 more
core   +1 more source